vitamin D dependent rickets type I
Last reviewed 01/2018
Vitamin D dependent rickets type I is rare, with autosomal recessive inheritance. The underlying lesion is deficiency of renal 1 alpha hydroxylase responsible for conversion of 25(OH)D3 to 1,25(OH)2D3.
Treatment is with physiological doses of cholecalciferol or of renal 1 alpha hydroxylase.